Home Metabolic myopathy: McArdle's disease

Metabolic myopathy: McArdle's disease


Defining Characteristics

Exercise intolerance w/ premature fatigue in anaerobic ex, stiffness/weakness in exercising muscles relieved by rest; rhabdomyolysis w/ intense ex, second wind phenomenon

Disease Development

Myophosphorylase deficiency, preventing the breakdown of glycogen to glucose (glycogen cannot be converted to G6P)

Potential Causes

Defect in glycogen breakdown


Histology? Abnormal deposits of glycogen